| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.211430974C>T | CA2087690 | ERBB4 | c.2584G>A (p.Glu862Lys) c.2614G>A (p.Glu872Lys) c.2536G>A (p.Glu846Lys) c.2437G>A (p.Glu813Lys) c.2659G>A (p.Glu887Lys) c.2737G>A (p.Glu913Lys) c.2692G>A (p.Glu898Lys) c.2662G>A (p.Glu888Lys) c.2038G>A (p.Glu680Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 2 | g.211430974C>A | CA350779122 | ERBB4 | c.2584G>T (p.Glu862Ter) c.2614G>T (p.Glu872Ter) c.2536G>T (p.Glu846Ter) c.2437G>T (p.Glu813Ter) c.2659G>T (p.Glu887Ter) c.2737G>T (p.Glu913Ter) c.2692G>T (p.Glu898Ter) c.2662G>T (p.Glu888Ter) c.2038G>T (p.Glu680Ter) | dbSNP |
| 2 | g.211430974C= | CA1325485717 | ERBB4 | c.2584G= (p.Glu862=) c.2614G= (p.Glu872=) c.2536G= (p.Glu846=) c.2437G= (p.Glu813=) c.2659G= (p.Glu887=) c.2737G= (p.Glu913=) c.2692G= (p.Glu898=) c.2662G= (p.Glu888=) c.2038G= (p.Glu680=) | dbSNP |
| 2 | g.211430974C>G | CA350779123 | ERBB4 | c.2584G>C (p.Glu862Gln) c.2614G>C (p.Glu872Gln) c.2536G>C (p.Glu846Gln) c.2437G>C (p.Glu813Gln) c.2659G>C (p.Glu887Gln) c.2737G>C (p.Glu913Gln) c.2692G>C (p.Glu898Gln) c.2662G>C (p.Glu888Gln) c.2038G>C (p.Glu680Gln) | dbSNP gnomAD v4 |